| Literature DB >> 12819610 |
J-L Arné1, C Depeyre, L Lesueur.
Abstract
Congenital erythropoietic porphyria (CEP) is an extremely rare autosomal recessively inherited disorder characterized by mutilating cutaneous photosensitivity and abnormal porphyrin heme synthesis in bone marrow. The present report describes a typical case of CEP with cornea involvement and scleromalacia in areas exposed to sunlight. The results obtained by conjunctival impression cytology are reported.Entities:
Mesh:
Year: 2003 PMID: 12819610
Source DB: PubMed Journal: J Fr Ophtalmol ISSN: 0181-5512 Impact factor: 0.818